PTDSS2
gene geneOn this page
Also known as PSS2
Summary
PTDSS2 (phosphatidylserine synthase 2, HGNC:15463) is a protein-coding gene on chromosome 11p15.5, encoding Phosphatidylserine synthase 2 (Q9BVG9). Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine.
The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine.
Source: NCBI Gene 81490 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 65 total
- Druggable target: yes
- MANE Select transcript:
NM_030783
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15463 |
| Approved symbol | PTDSS2 |
| Name | phosphatidylserine synthase 2 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSS2 |
| Ensembl gene | ENSG00000174915 |
| Ensembl biotype | protein_coding |
| OMIM | 612793 |
| Entrez | 81490 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 10 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000308020, ENST00000525059, ENST00000525727, ENST00000526558, ENST00000526878, ENST00000527325, ENST00000527479, ENST00000528617, ENST00000530029, ENST00000530087, ENST00000531411, ENST00000531520, ENST00000532614, ENST00000855856, ENST00000855857, ENST00000855858, ENST00000855859, ENST00000926902, ENST00000926903, ENST00000951431, ENST00000951432, ENST00000951433
RefSeq mRNA: 4 — MANE Select: NM_030783
NM_001329544, NM_001329545, NM_001329548, NM_030783
CCDS: CCDS7696
Canonical transcript exons
ENST00000308020 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001305299 | 450279 | 450637 |
| ENSE00001318646 | 490420 | 491399 |
| ENSE00003463003 | 479085 | 479152 |
| ENSE00003507236 | 489400 | 489514 |
| ENSE00003520323 | 488529 | 488647 |
| ENSE00003550891 | 489883 | 490068 |
| ENSE00003556424 | 488199 | 488312 |
| ENSE00003582456 | 460187 | 460288 |
| ENSE00003587949 | 486939 | 487073 |
| ENSE00003619411 | 489588 | 489733 |
| ENSE00003658128 | 473895 | 473977 |
| ENSE00003689918 | 487420 | 487470 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 96.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8905 / max 206.2583, expressed in 1814 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 112199 | 22.8756 | 1807 |
| 112200 | 6.8110 | 1637 |
| 112201 | 6.2039 | 1597 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.50 | gold quality |
| right testis | UBERON:0004534 | 96.40 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.90 | gold quality |
| testis | UBERON:0000473 | 95.69 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.26 | gold quality |
| cerebellum | UBERON:0002037 | 95.25 | gold quality |
| apex of heart | UBERON:0002098 | 94.41 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.90 | gold quality |
| right ovary | UBERON:0002118 | 93.24 | gold quality |
| left ovary | UBERON:0002119 | 93.14 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.78 | gold quality |
| Ammon’s horn | UBERON:0001954 | 92.61 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.41 | gold quality |
| putamen | UBERON:0001874 | 92.35 | gold quality |
| substantia nigra | UBERON:0002038 | 92.33 | gold quality |
| brain | UBERON:0000955 | 92.29 | gold quality |
| ovary | UBERON:0000992 | 92.21 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.06 | gold quality |
| hypothalamus | UBERON:0001898 | 92.05 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.03 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.00 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.94 | gold quality |
| pituitary gland | UBERON:0000007 | 91.93 | gold quality |
| frontal cortex | UBERON:0001870 | 91.85 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.79 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.75 | gold quality |
| temporal lobe | UBERON:0001871 | 91.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.39 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- Purification and characterization of human phosphatidylserine synthases 1 and 2. (PMID:19014349)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ptdss2 | ENSDARG00000101018 |
| mus_musculus | Ptdss2 | ENSMUSG00000025495 |
| rattus_norvegicus | Ptdss2 | ENSRNOG00000015912 |
| caenorhabditis_elegans | WBGENE00012095 | |
| caenorhabditis_elegans | WBGENE00013920 |
Paralogs (1): PTDSS1 (ENSG00000156471)
Protein
Protein identifiers
Phosphatidylserine synthase 2 — Q9BVG9 (reviewed: Q9BVG9)
Alternative names: Serine-exchange enzyme II
All UniProt accessions (3): Q9BVG9, E9PLE4, E9PS47
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. Catalyzes the conversion of phosphatatidylethanolamine and does not act on phosphatidylcholine. Can utilize both phosphatidylethanolamine (PE) plasmalogen and diacyl PE as substrate and the latter is six times better utilized, indicating the importance of an ester linkage at the sn-1 position. Although it shows no sn-1 fatty acyl preference, exhibits significant preference towards docosahexaenoic acid (22:6n-3) compared with 18:1 or 20:4 at the sn-2 position.
Subcellular location. Endoplasmic reticulum membrane.
Activity regulation. Requires calcium ions. Inhibited by exogenous phosphatidylserine.
Pathway. Phospholipid metabolism; phosphatidylserine biosynthesis.
Similarity. Belongs to the phosphatidyl serine synthase family.
RefSeq proteins (4): NP_001316473, NP_001316474, NP_001316477, NP_110410* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004277 | PSS | Family |
Pfam: PF03034
Enzyme classification (BRENDA):
- EC 2.7.8.29 — L-serine-phosphatidylethanolamine phosphatidyltransferase (BRENDA: 6 organisms, 11 substrates, 7 inhibitors, 1 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| L-SERINE | 0.12 | 1 |
Catalyzed reactions (Rhea), 9 shown:
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + L-serine = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:27606)
- 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:40795)
- 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:41484)
- 1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphoserine + ethanolamine (RHEA:41488)
- 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphoserine + ethanolamine (RHEA:41492)
- 1-(1Z-octadecenyl)-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-(1Z-octadecenyl)-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:41496)
- 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + L-serine = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoserine + ethanolamine (RHEA:41500)
- 1-(1Z-octadecenyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-(1Z-octadecenyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:41600)
- 1-(1Z-octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + L-serine = 1-(1Z-octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-L-serine + ethanolamine (RHEA:41604)
UniProt features (23 total): topological domain 8, transmembrane region 7, modified residue 3, region of interest 2, chain 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N0X | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVG9-F1 | 82.93 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 16, 24, 485
Glycosylation sites (1): 181
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483101 | Synthesis of PS |
MSigDB gene sets: 128 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHATIDYLSERINE_METABOLIC_PROCESS
GO Biological Process (3): phosphatidylserine biosynthetic process (GO:0006659), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)
GO Molecular Function (3): CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882), transferase activity (GO:0016740), L-serine-phosphatidylethanolamine phosphatidyltransferase activity (GO:0106245)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphatidylserine metabolic process | 1 |
| modified amino acid biosynthetic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| primary metabolic process | 1 |
| phospholipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| CDP-alcohol phosphatidyltransferase activity | 1 |
| catalytic activity | 1 |
| phosphotransferase activity, for other substituted phosphate groups | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
736 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTDSS2 | PISD | Q9UG56 | 792 |
| PTDSS2 | CEPT1 | Q9Y6K0 | 628 |
| PTDSS2 | PCYT2 | Q99447 | 602 |
| PTDSS2 | PEMT | Q9UBM1 | 575 |
| PTDSS2 | SELENOI | Q9C0D9 | 526 |
| PTDSS2 | CHPT1 | Q8WUD6 | 505 |
| PTDSS2 | DBNL | P84070 | 484 |
| PTDSS2 | ETNK2 | Q9NVF9 | 449 |
| PTDSS2 | TMEM258 | P61165 | 444 |
| PTDSS2 | CHKA | P35790 | 438 |
| PTDSS2 | IPO11 | Q9UI26 | 428 |
| PTDSS2 | ETNK1 | Q9HBU6 | 420 |
| PTDSS2 | PCYT1A | P49585 | 417 |
| PTDSS2 | PRKCD | Q05655 | 414 |
| PTDSS2 | AGPAT3 | Q9NRZ7 | 390 |
| PTDSS2 | HRAS | P01112 | 390 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| PTDSS2 | F2RL1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCR6 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| STOM | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| MBOAT1 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY12 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| rep | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTDSS2 | URI1 | psi-mi:“MI:0914”(association) | 0.350 |
| OPRL1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNK1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ENTPD7 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| P2RX2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC4 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| HS2ST1 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| B3GALT4 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC1A1 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (108): PTDSS2 (Proximity Label-MS), PTDSS2 (Affinity Capture-MS), PTDSS2 (Affinity Capture-MS), PTDSS2 (Affinity Capture-MS), STOM (Affinity Capture-MS), PTDSS2 (Affinity Capture-RNA), PTDSS2 (Affinity Capture-MS), PTDSS2 (Affinity Capture-MS), PTDSS2 (Proximity Label-MS), PTDSS2 (Affinity Capture-MS), PTDSS2 (Proximity Label-MS), PTDSS2 (Proximity Label-MS), PTDSS2 (Proximity Label-MS), PTDSS2 (Two-hybrid), PTDSS2 (Affinity Capture-MS)
ESM2 similar proteins: A2A559, A2V7M9, A6H7B8, A6X919, A7YWP2, A8KBG2, A8WFS8, B2GV22, D4AD75, E1BYA3, F1Q8R9, O08888, O45145, O49639, P25625, P38298, P70245, Q0VFE3, Q15125, Q290J8, Q2ABP2, Q2ABP3, Q3SZ36, Q3TQR0, Q568I2, Q5M9A7, Q60490, Q60WT2, Q68EV0, Q6P0S3, Q753H5, Q7K0P4, Q801D8, Q801G2, Q8C2R7, Q8N4S7, Q8R4X1, Q8T8L8, Q8TDN7, Q91VH1
Diamond homologs: B1H3H9, B2GV22, E1BYA3, E7EY42, F4HXY7, O08888, P48651, Q00576, Q08D11, Q0JR55, Q2KHY9, Q5N8Q3, Q5PQL5, Q5ZM65, Q6I628, Q803C9, Q99LH2, Q9BVG9, Q9VPD3, Q9Z1X2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Lysosphingolipid and LPA receptors | 5 | 40.9× | 5e-06 |
| Class A/1 (Rhodopsin-like receptors) | 16 | 12.8× | 3e-11 |
| Chemokine receptors bind chemokines | 6 | 12.1× | 3e-04 |
| GPCR ligand binding | 14 | 9.7× | 2e-08 |
| G alpha (q) signalling events | 12 | 7.4× | 5e-06 |
| Peptide ligand-binding receptors | 9 | 7.2× | 2e-04 |
| G alpha (i) signalling events | 17 | 7.1× | 2e-08 |
| Signaling by GPCR | 14 | 6.0× | 5e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 13 | 24.7× | 1e-12 |
| positive regulation of cytosolic calcium ion concentration | 18 | 18.3× | 2e-15 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 15 | 17.2× | 2e-12 |
| calcium-mediated signaling | 9 | 14.3× | 2e-06 |
| cell chemotaxis | 7 | 11.3× | 4e-04 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 11 | 10.8× | 1e-06 |
| G protein-coupled receptor signaling pathway | 31 | 9.8× | 2e-19 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3374 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:460177:T:TA | acceptor_gain | 1.0000 |
| 11:460178:G:A | acceptor_gain | 1.0000 |
| 11:460181:TTTCA:T | acceptor_loss | 1.0000 |
| 11:460184:CA:C | acceptor_loss | 1.0000 |
| 11:460185:A:AG | acceptor_gain | 1.0000 |
| 11:460185:AG:A | acceptor_gain | 1.0000 |
| 11:460185:AGGC:A | acceptor_gain | 1.0000 |
| 11:460186:G:GA | acceptor_gain | 1.0000 |
| 11:460186:GG:G | acceptor_gain | 1.0000 |
| 11:460186:GGC:G | acceptor_gain | 1.0000 |
| 11:460186:GGCG:G | acceptor_gain | 1.0000 |
| 11:460186:GGCGA:G | acceptor_gain | 1.0000 |
| 11:460284:AAGAG:A | donor_gain | 1.0000 |
| 11:460285:AGAG:A | donor_gain | 1.0000 |
| 11:460285:AGAGG:A | donor_loss | 1.0000 |
| 11:460286:GAG:G | donor_gain | 1.0000 |
| 11:460286:GAGG:G | donor_gain | 1.0000 |
| 11:460287:AG:A | donor_gain | 1.0000 |
| 11:460287:AGG:A | donor_loss | 1.0000 |
| 11:460288:GG:G | donor_gain | 1.0000 |
| 11:460289:G:GG | donor_gain | 1.0000 |
| 11:460289:GTA:G | donor_loss | 1.0000 |
| 11:486889:A:G | acceptor_gain | 1.0000 |
| 11:488197:A:AG | acceptor_gain | 1.0000 |
| 11:488198:G:GG | acceptor_gain | 1.0000 |
| 11:488313:G:GG | donor_gain | 1.0000 |
| 11:488527:A:AG | acceptor_gain | 1.0000 |
| 11:488528:G:GG | acceptor_gain | 1.0000 |
| 11:488647:AGTA:A | donor_loss | 1.0000 |
| 11:488648:G:GG | donor_gain | 1.0000 |
AlphaMissense
3191 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:487435:T:C | F196L | 1.000 |
| 11:487437:T:A | F196L | 1.000 |
| 11:487437:T:G | F196L | 1.000 |
| 11:488238:A:C | S221R | 1.000 |
| 11:488240:C:A | S221R | 1.000 |
| 11:488240:C:G | S221R | 1.000 |
| 11:488247:T:C | F224L | 1.000 |
| 11:488249:C:A | F224L | 1.000 |
| 11:488249:C:G | F224L | 1.000 |
| 11:488304:T:A | W243R | 1.000 |
| 11:488304:T:C | W243R | 1.000 |
| 11:488555:C:A | N254K | 1.000 |
| 11:488555:C:G | N254K | 1.000 |
| 11:489458:T:A | W305R | 1.000 |
| 11:489458:T:C | W305R | 1.000 |
| 11:489460:G:C | W305C | 1.000 |
| 11:489460:G:T | W305C | 1.000 |
| 11:489612:T:C | F332L | 1.000 |
| 11:489614:C:A | F332L | 1.000 |
| 11:489614:C:G | F332L | 1.000 |
| 11:473966:G:C | R119T | 0.999 |
| 11:473968:C:T | P120S | 0.999 |
| 11:473969:C:A | P120H | 0.999 |
| 11:479090:T:A | W125R | 0.999 |
| 11:479090:T:C | W125R | 0.999 |
| 11:479094:G:T | R126M | 0.999 |
| 11:487436:T:G | F196C | 0.999 |
| 11:487439:T:A | V197D | 0.999 |
| 11:487447:C:G | H200D | 0.999 |
| 11:487449:C:A | H200Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000053565 (11:487390 G>A,T), RS1000080880 (11:467267 G>A), RS1000152383 (11:450307 G>A,C,T), RS1000163191 (11:446579 C>T), RS1000217948 (11:449883 G>C), RS1000268873 (11:450101 C>T), RS1000281784 (11:456885 A>G), RS1000302390 (11:474147 G>A,C), RS1000337443 (11:478978 C>A), RS1000397545 (11:457281 T>A), RS1000421879 (11:474032 C>A,T), RS1000499532 (11:489314 G>A), RS1000504380 (11:459987 T>A), RS1000625007 (11:452559 G>A), RS1000682690 (11:446469 A>G)
Disease associations
OMIM: gene MIM:612793 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002385_492 | High light scatter reticulocyte count | 7.000000e-11 |
| GCST90002386_413 | High light scatter reticulocyte percentage of red cells | 5.000000e-10 |
| GCST90002387_365 | Immature fraction of reticulocytes | 5.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067347 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| celastrol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Methapyrilene | decreases methylation | 1 |
| Pesticides | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652187 | Binding | Binding affinity to human PTDSS2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.